Výsledky vyhledávání - Cesare Rossi
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3C-like protease of rabbit hemorrhagic disease virus: identification of cleavage sites in the ORF1 polyprotein and analysis of cleavage specificity Autor Christoph Wirblich, Maria Sibilia, María Beatrice Boniotti, Cesare Rossi, H J Thiel, Gregor Meyers
Vydáno 1995Artigo -
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Prenatal features of Noonan syndrome: prevalence and prognostic value Autor Giuseppina Baldassarre, Alessandro Mussa, Anna Dotta, Elena Banaudi, Serena Forzano, Annalisa Marinosci, Cesare Rossi, Marco Tartaglia, Margherita Silengo, Giovanni Battista Ferrero
Vydáno 2011Artigo -
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Mutations of the Igβ gene cause agammaglobulinemia in man Autor Simona Ferrari, Vassilios Lougaris, Stefano Giuseppe Caraffi, Roberta Zuntini, Jianying Yang, Annarosa Soresina, Jordi Antón, Giantonio Cazzola, Cesare Rossi, Michael Reth, Alessandro Plebani
Vydáno 2007Artigo -
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Germline<i>BRAF</i>mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum Autor Anna Sárközy, Claudio Carta, Sonia Moretti, Giuseppe Zampino, M. Cristina Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Romana Lepri, Valentina Petrangeli, Maria Lisa Dentici, Grazia M.S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni Battista Ferrero, Margherita Silengo, Luigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola, Marco Tartaglia
Vydáno 2009Artigo -
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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype Autor Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Romana Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, M. Cristina Digilio, Maria Luigia Cavaliere, Johanna M. van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni Battista Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G. Yntema, Willy M. Nillesen, Ravi Savarirayan, Martin Zenker, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia
Vydáno 2010Artigo -
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Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome Autor Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lißewski, Francesca Pantaleoni, Federica Consoli, Francesca Romana Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Čuturilo, Alessandro Sartório, Sigrid Tinschert, Maria Accadia, M. Cristina Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni Battista Ferrero, Simone Martinelli, Marco Tartaglia
Vydáno 2017Artigo -
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair Autor Viviana Cordeddu, Elia Di Schiavi, L Pennacchio, Avi Ma’ayan, Anna Sárközy, Valentina Fodale, Serena Cecchetti, Alessio Cardinale, Joel Martin, Wendy Schackwitz, Anna Lipzen, Giuseppe Zampino, Laura Mazzanti, M. Cristina Digilio, Simone Martinelli, Elisabetta Flex, Francesca Romana Lepri, Deborah Bartholdi, Kerstin Kutsche, Giovanni Battista Ferrero, Cecilia Anichini, Angelo Selicorni, Cesare Rossi, Romano Tenconi, Martin Zenker, Daniela Merlo, Bruno Dallapiccola, Ravi Iyengar, Paolo Bazzicalupo, Bruce D. Gelb, Marco Tartaglia
Vydáno 2009Artigo -
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SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations Autor Francesca Romana Lepri, Alessandro De Luca, Lorenzo Stella, Cesare Rossi, Giuseppina Baldassarre, Francesca Pantaleoni, Viviana Cordeddu, Bradley J. Williams, Maria Lisa Dentici, Viviana Caputo, Serenella Venanzi, Michela Bonaguro, Ines Kavamura, Maria Felicia Faienza, Alba Pilotta, Franco Stanzial, Francesca Faravelli, Orazio Gabrielli, Bruno Marino, Giovanni Neri, Margherita Silengo, Giovanni Battista Ferrero, Isabella Torrrente, Angelo Selicorni, Laura Mazzanti, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia
Vydáno 2011Artigo -
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A restricted spectrum of NRAS mutations causes Noonan syndrome Autor Ion Cristian Cirstea, Kerstin Kutsche, Radovan Dvorský, Lothar Gremer, Claudio Carta, Denise Horn, Amy E. Roberts, Francesca Romana Lepri, Torsten Merbitz-Zahradnik, Rainer König, Christian P. Kratz, Francesca Pantaleoni, Maria Lisa Dentici, Victoria A. Joshi, Raju Kucherlapati, Laura Mazzanti, Stefan Mundlos, Michael A. Patton, Margherita Silengo, Cesare Rossi, Giuseppe Zampino, Cristina Digilio, Liborio Stuppia, E Seemanová, L Pennacchio, Bruce D. Gelb, Bruno Dallapiccola, Alfred Wittinghofer, Mohammad Reza Ahmadian, Marco Tartaglia, Martin Zenker
Vydáno 2009Artigo -
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SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype Autor Marialetizia Motta, Giulia Fasano, Sina Gredy, Julia Brinkmann, Adeline Alice Bonnard, Pelin Özlem Şimşek‐Kiper, Elif Yılmaz Güleç, L. Essaddam, Gülen Eda Ütine, Ingrid G. Prandi, Martina Venditti, Francesca Pantaleoni, Francesca Clementina Radio, Andrea Ciolfi, Stefania Petrini, Federica Consoli, Cédric Vignal, Denis Hepbasli, Melanie Ullrich, Elke de Boer, Lisenka E.L.M. Vissers, Sami Gritli, Cesare Rossi, Alessandro De Luca, S. Ben Bêcher, Bruce D. Gelb, Bruno Dallapiccola, Antonella Lauri, Giovanni Chillemi, Kai Schuh, Hélène Cavé, Martin Zenker, Marco Tartaglia
Vydáno 2021Artigo -
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome Autor Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Romana Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J. Pugh, Alessandro Bruselles, James R. Priest, L Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni, Maria Gnazzo, Paola Daniele, Christina Lißewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Markéta Vlčková, E Seemanová, Cristina Digilio, Martin Zenker, Giuseppe Zampino, Alain Verloès, Bruno Dallapiccola, Amy E. Roberts, Hélène Cavé, Bruce D. Gelb, Benjamin G. Neel, Marco Tartaglia
Vydáno 2015Artigo -
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Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis Autor Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, Simone Martinelli, Marion Strullu, Eyad K. Fansa, Aurélie Caye, Alessandro De Luca, Francesca Romana Lepri, Radovan Dvorský, Luca Pannone, Stefano Paolacci, S.-C. Zhang, V. Fodale, Gianfranco Bocchinfuso, Cesare Rossi, Emma Burkitt‐Wright, Andrea Farrotti, Emilia Stellacci, Serena Cecchetti, Rosangela Ferese, Lisabianca Bottero, S. Castro, Odile Fenneteau, Benoît Brethon, Massimo Sanchez, Amy E. Roberts, Helger G. Yntema, I. van der Bürgt, Paola Cianci, M.-L. Bondeson, M. Cristina Digilio, Giuseppe Zampino, Briedgeen Kerr, Y. Aoki, Mignon L. Loh, Antonio Palleschi, Elia Di Schiavi, Alessandra Carè, Angelo Selicorni, Bruno Dallapiccola, Ion Cristian Cirstea, Lorenzo Stella, Martin Zenker, Bruce D. Gelb, Hélène Cavé, Mohammad Reza Ahmadian, Marco Tartaglia
Vydáno 2014Artigo -
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Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes Autor Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorský, Francesca Romana Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence E. Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha A. Schrier Vergano, Katherine G. Langley, Douglas P. Larsen, Kelly D. Farwell, Sha Tang, Cameron Mroske, Ivan Gallotta, Elia Di Schiavi, Matteo Della Monica, Licia Lugli, Cesare Rossi, Marco Seri, Guido Cocchi, Lindsay B. Henderson, Berivan Baskin, Mariëlle Alders, Roberto Mendoza‐Londono, Lucie Dupuis, Deborah A. Nickerson, Jessica X. Chong, Naomi Meeks, Kathleen Brown, Tahnee N. Causey, Megan T. Cho, Stephanie Demuth, M. Cristina Digilio, Bruce D. Gelb, Michael J. Bamshad, Martin Zenker, Mohammad Reza Ahmadian, Raoul C. M. Hennekam, Marco Tartaglia, Ghayda Mirzaa
Vydáno 2018Artigo -
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum Autor Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia
Vydáno 2020Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Mutation
Noonan syndrome
Cancer research
Phenotype
KRAS
Missense mutation
Signal transduction
Costello syndrome
Molecular biology
Biochemistry
Cell biology
PTPN11
Antibody
Germline
Germline mutation
Immunology
MAPK/ERK pathway
Medicine
Virology
Capsid
Carcinogenesis
Enzyme
Internal medicine
Mathematics
Mutant
NS2-3 protease
Neuroblastoma RAS viral oncogene homolog